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  1. Article

    Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

    Nat. Genet. 49, 223–237 (2017); published online 19 December 2016; corrected after print 20 April 2017 Following publication of this article, the authors were asked to remove a clinical image and some video fo...

    Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols… in Nature Genetics (2017)

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    Article

    Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

    Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance. Their findings...

    Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols… in Nature Genetics (2017)

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    Chapter

    Moral Epistemology

    I will begin with a puzzle about moral epistemology. At first sight, the puzzle is primarily a problem for moral realism, since it highlights some ways in which moral epistemology differs from the epistemology...

    Alison Hills in New Waves in Metaethics (2011)

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    Protocol

    Screening or Selection for Chloroplast Biogenesis Mutants of Arabidopsis, Following Chemical or Insertional Mutagenesis

    The power of Arabidopsis as a model organism lies in the depth and breadth of genetic tools available for its study. This also applies to the study of chloroplast biology. Although vast numbers of mutants have...

    Enrique López-Juez, Alison Hills in Chloroplast Research in Arabidopsis (2011)

  5. Article

    Open Access

    MLPA for confirmation of array CGH results and determination of inheritance

    Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of p...

    Alison Hills, Joo Wook Ahn, Celia Donaghue, Helen Thomas… in Molecular Cytogenetics (2010)

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  6. Article

    Open Access

    Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

    Commercial MLPA kits (MRC-Holland) are available for detecting imbalance at the subtelomere regions of chromosomes; each kit consists of one probe for each subtelomere.

    Joo Wook Ahn, Caroline Mackie Ogilvie, Alysia Welch, Helen Thomas… in BMC Medical Genetics (2007)

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    Article

    Intentions, foreseen consequences and the doctrine of double effect

    The difficulty of distinguishing between the intended and the merely foreseen consequences of actions seems to many to be the most serious problem for the doctrine of double effect. It has led some to reject t...

    Alison Hills in Philosophical Studies (2007)

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    Article

    Defending Double Effect

    According to the doctrine of double effect(DDE), there is a morally significantdifference between harm that is intended andharm that is merely foreseen and not intended.It is not difficult to explain why it is...

    Alison Hills in Philosophical Studies (2003)